WormBase Tree Display for Variation: WBVar00241103

WBVar00241103 Evidence: Paper_evidence: WBPaper00003546
      WBPaper00002046
  Name: Public_name: q393
    Other_name: Y73C8B.4.1:c.470G>A
      CE22970:p.Cys157Tyr
    HGVSg: CHROMOSOME_V:g.3188819G>A
  Sequence_details: SMap: S_parent: Sequence: Y73C8B
    Flanking_sequences: aaagatgcgacgccatgggacgtctccgct tgacatcggatggatgggaccacattgtgg
    Mapping_target: Y73C8B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00003546
              WBPaper00002046
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00002246
    Transcript: Y73C8B.4.1 (12)
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00002046
  Genetics: Interpolated_map_position: V -12.7116
  Description: Phenotype: WBPhenotype:0000094 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: Anus is absent. A protrusion is present at the normal location of the anal opening Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 92 percent of L1 lethals lack both the excretory cell and rectum/anus. 8 percent of L1 lethals lack either the excretory cell and rectum/anus Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005364 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000117 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000621 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: There is no detectable excretory cell or excretory duct and a small protrusion is present at the normal location of the excretory pore Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 92 percent of L1 lethals lack both the excretory cell and rectum/anus. 8 percent of L1 lethals lack either the excretory cell and rectum/anus Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005812 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
            WBbt:0005777 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001098 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Remark: The rectum is undetectable Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 92 percent of L1 lethals lack both the excretory cell and rectum/anus. 8 percent of L1 lethals lack either the excretory cell and rectum/anus Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005773 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001099 Paper_evidence: WBPaper00001423
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: 4 percent of L1 lethals have a twisted nose Paper_evidence: WBPaper00001423
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001423
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001423
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001423
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00001423
    WBPaper00002046
    WBPaper00003546
  Method: Substitution_allele